|
Variant ID: 98 |
Type | Deletion |
|---|---|---|
| Effect | Frameshift | cDNA Change | c.814delC |
| Amino Acid Change | p.(Leu272*) (Legacy AA No. 232) | |
| Domain | Serine Protease | |
| Sequence Context | ||
| Location | Exon 7 | |
| Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant |
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The details of the cases reported with the above variant are listed below
| Case ID | Other Variants found in case |
Genotype | FX:C (%) intrinsic | FX:C (%) extrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4 | Heterozygous | 14 | 36 | Mild | Not Reported | Reddy et al 1989 | Postoperative bleeding; probable compound heterozygote |